May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
3 citations
,
September 2024 in “Experimental Dermatology” IL-18 levels are higher in hidradenitis suppurativa patients and may indicate disease severity.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
42 citations
,
May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
January 2016 in “eScholarship (California Digital Library)” HBCs in the olfactory epithelium can self-renew or differentiate into other cell types, with specific patterns during regeneration.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
UC-MSC-Es help human hair cells grow.
17 citations
,
May 2011 in “Gene Therapy” Using polyethylenimine-DNA to deliver the hTERT gene can stimulate hair growth and may be useful in treating hair loss, but there could be potential cancer risks.
21 citations
,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
July 2024 in “International Journal of Molecular Sciences” The inhibitor DPP can promote hair growth.
28 citations
,
May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
1 citations
,
September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
1 citations
,
May 2019 in “Cytotherapy” The new ddPCR method reliably detects unwanted viruses in CAR-T cell products, ensuring their safety for patients.
22 citations
,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
13 citations
,
January 1997 in “Biochemical Pharmacology” Human liver enzyme DHEA ST helps process minoxidil.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” GasderminA3 is important for normal hair cycle transitions by controlling Wnt signaling.
4 citations
,
June 2021 in “Dermatology” Scientists created a 3D skin model to study a chronic skin disease and test treatments.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
75 citations
,
October 2016 in “Genes & Development” Cells in hair follicles help create fat cells in the skin by releasing a protein called Sonic Hedgehog.